Association study of novel single nucleotide polymorphisms of androgen receptor and estrogen receptor-α genes with male infertility in North West of Iran: a case- control study

Background: Observational evidence on the association of novel single nucleotide polymorphism (SNPs) of androgen receptor (AR) and estrogen receptor-α (ER-α) genes with odds of male infertility are rare. This is particularly relevant in Iranian population where male infertility is relatively high. Objective: This study was designed to investigate the relationship between different SNPs of these genes and male infertility among Iranian population. Materials and Methods: The present project was a population-based, case-control study conducted on ۱۲۰ idiopathic azoospermia or severe oligospermia infertile cases alongside ۱۲۰ age-matched subjects enrolled as controls. Overall, ۳ variants from the AR gene and ۲ variants from ER-α were genotyped - ARrs۱۳۷۸۵۲۵۶۸, ARrs۱۳۷۸۵۲۵۹۹, and AR rs۱۳۷۸۵۲۵۶۳ and ER-α rs۷۹۶۰۶۵۳۵۴, and ER-αrs۱۰۴۸۹۳۹۵۶- using amplification refractory mutation system methods. Results: Obtained results indicated a significant association between AR rs۱۳۷۸۵۲۵۵۶۸ TT genotype as well as AR rs۱۳۷۸۵۲۵۹۹ C allele with odds of male infertility (OR: ۰.۴۳۳, CI: ۰.۱۹۷-۰.۹۵۱ and OR: ۰.۵۴۵, CI: ۰.۳۰۴-۰.۹۷۸, respectively). Other variants of AR were not related to male infertility. A significant association was noted between predisposition polymorphism ER-α rs۷۹۶۰۶۵۳۵۴ genotypes with male infertility. This significant association was not seen between ER-α rs۱۰۴۸۹۳۹۵۶ and the risk of idiopathic azoospermia or severe oligospermia. Heterozygote overdominance was also observed in ESR rs۷۹۶۰۶۵۳۵۴ but not in the other variants studied. Conclusion: Pieces of evidence were foundon the association of novel polymorphisms of AR and ER-α with male infertility among the Iranian population. However, larger studies are warranted to confirm our findings.

کلیدواژه ها:

Male infertility ، Androgen receptor ، Estrogen receptor-α. ، ناباروری مردان ، آندروژن رسپتور ، استروژن رسپتور آلفا.